Latest Amniocentesis Newshttp://www.medindia.net/healthnews/amniocentesis-news.asp
Medindia largest health website in india.en-usCopyright 2015. All Rights Reserved.Tue, 3 Mar 2015 14:23:21 GMThttp://www.medindia.net/news/lithuanian-with-birth-defect-gets-life-changing-bionic-arm-146739-1.htm
A 21-year old Lithuanian boy, Martynas Girulis, who was born with a neuromuscular disease that left him unable to use his arms, has undergone a bionic reconstruction surgery, and is now able to control his bionic arm with his brain.
Austrian Dr. Oskar Aszmann performed the operation in Vienna in November and is a world expert in reconstructive surgery. He said, "He's the first patient with a birth defect to undergo bionic reconstruction. This has never been done before. Bionic arms and hands are not new....]]>http://www.medindia.net/news/lithuanian-with-birth-defect-gets-life-changing-bionic-arm-146739-1.htmhttp://www.medindia.net/news/risk-of-birth-defect-double-with-pregnant-women-taking-painkillers-145937-1.htm
Using doctor prescribed painkillers by women of child bearing age, face double the risk of serious birth defects in babies than their counterparts.
Many women are unaware that prescription opioid-based medications such as codeine, oxycodone, hydrocodone, or morphine, used to treat severe pain, may increase the risk for birth defects of the baby's brain, spine, and heart, as well as preterm birth when taken during pregnancy. Use of these medications also can cause babies to suffer withdrawal ...]]>http://www.medindia.net/news/risk-of-birth-defect-double-with-pregnant-women-taking-painkillers-145937-1.htmhttp://www.medindia.net/news/learning-disabilities-due-to-genetic-disorder-reversed-by-statins-143539-1.htm
Learning deficits caused by a mutation linked to a common genetic cause of learning disabilities could be reversed with statins, a popular class of cholesterol drugs. This was discovered by UCLA neuroscientists and published in the November 10 advance online edition of iNature Neuroscience/i, the findings were studied in mice genetically engineered to develop the disease, called Noonan syndrome.
The disorder can disrupt a child's development in many ways, often causing unusual facial features, ...]]>http://www.medindia.net/news/learning-disabilities-due-to-genetic-disorder-reversed-by-statins-143539-1.htmhttp://www.medindia.net/news/researchers-develop-new-dna-test-for-diagnosing-diseases-linked-to-childhood-blindness-140324-1.htm
Advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, UK researchers have demonstrated.
The study is published online today in iOphthalmology/i, the journal of the American Academy of Ophthalmology. Using a single test, doctors were able to tailor care specifically to a child's condition based on their mutations reducing the time and money spent on diagnosis and enabling earlier treatment and genetic counseling....]]>http://www.medindia.net/news/researchers-develop-new-dna-test-for-diagnosing-diseases-linked-to-childhood-blindness-140324-1.htmhttp://www.medindia.net/news/scientists-discover-genetic-disorder-causing-strokes-and-vascular-inflammation-in-children-135363-1.htm
Inherited mutations in a blood enzyme called ADA2 that cause a syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood have been discovered by scientists. The novel genetic disorder was called deficiency of ADA2, or DADA2.
The disease has a broad range of symptoms and its severity varies significantly, which represent a problem for making an accurate diagnosis. Since the cause of the disease is now known, it will be possible to confirm DADA2 by gene ...]]>http://www.medindia.net/news/scientists-discover-genetic-disorder-causing-strokes-and-vascular-inflammation-in-children-135363-1.htmhttp://www.medindia.net/news/gluca-milk-cloned-goats-milk-with-enzyme-can-treat-rare-genetic-disorder-134769-1.htm
In a path breaking research scientists in Brazil have genetically modified a goat named Gluca to produce milk with an enzyme to treat a rare genetic disorder, O Estado de Sao Paulo newspaper reported Tuesday.
The goat, named "Gluca," is the first of its kind in South America. It has been genetically modified to produce the enzyme glucocerebrosidase.
Gaucher's disease is a rare human genetic condition caused by hereditary deficiency of that enzyme.
People with Gaucher's - which can manifest ...]]>http://www.medindia.net/news/gluca-milk-cloned-goats-milk-with-enzyme-can-treat-rare-genetic-disorder-134769-1.htmhttp://www.medindia.net/news/dna-test-reveals-charles-darwin-had-crohns-disease-134181-1.htm
A new documentary revealed that the iconic English naturalist and geologist Charles Darwin suffered from Crohn's disease.
Using some of his hairs 130 years after his death, Channel 4 looked into his DNA and discover why he struggled with a debilitating illness which affected his work on books, such as On the Origin of Species, which contributed to the theory of evolution.
In the second episode of Dead Famous DNA, Dr Stephan Schuster, Professor of Biochemistry and Molecular Biology at Pennyslvania ...]]>http://www.medindia.net/news/dna-test-reveals-charles-darwin-had-crohns-disease-134181-1.htmhttp://www.medindia.net/news/miscarriage-clues-identified-in-new-dna-test-133528-1.htm
A new research shows an alternative DNA test offers clinically relevant genetic information to identify why a miscarriage may have occurred years ago.
Researchers were able to identify chromosomal variants and abnormalities in nearly 50 percent of the samples. This first-of-its-kind study was conducted by researchers from Montefiore Medical Center and the Albert Einstein College of Medicine of Yeshiva University. The results were published in the March issue of iReproductive Biology and Endocrinology/i....]]>http://www.medindia.net/news/miscarriage-clues-identified-in-new-dna-test-133528-1.htmhttp://www.medindia.net/news/mjs-long-lost-son-dna-test-claims-slammed-by-fans-132951-1.htm
Michael Jackson's fans hit out on the DNA test claims that he fathered a secret son.
One of the 'Thriller' hitmaker's fan took to Twitter saying that Jackson's lovechild story was starting to feel like a hoax, while another user wondered when all the drama surrounding the singer was going to end, the Mirror reported.
Another social media user said that why would Jackson, who loved kids, wouldn't claim his own son but had Debbie Rowe carry two of his children.
Brandon Howard, the son ...]]>http://www.medindia.net/news/mjs-long-lost-son-dna-test-claims-slammed-by-fans-132951-1.htmhttp://www.medindia.net/news/new-prenatal-dna-test-helps-detect-chromosomal-anomalies-accurately-132641-1.htm
Researchers have come up with a new DNA test that helps detect Down Syndrome and other diseases more accurately in foetus compared to the standard procedures followed at present.
The results are also available in around 9-10 weeks, which is earlier than the time taken for the traditional method. This also gives mothers more time to decide about whether to continue or abort the foetus.
In the DNA test, a sample of mother's blood is taken followed by testing the DNA coming off the placenta. The ...]]>http://www.medindia.net/news/new-prenatal-dna-test-helps-detect-chromosomal-anomalies-accurately-132641-1.htmhttp://www.medindia.net/news/fetal-chromosome-abnormalities-can-be-identified-better-by-dna-test-better-than-standard-screens-132480-1.htm
New research that has significant implications for prenatal testing for major fetal chromosome abnormalities appears in this week's iNew England Journal of Medicine/i.
The study found that in a head-to-head comparison of noninvasive prenatal testing using cell free DNA (cfDNA) to standard screening methods, cfDNA testing (verifi prenatal test, Illumina, Inc.) significantly reduced the rate of false positive results and had significantly higher positive predictive values for the detection of fetal trisomies 21 and 18....]]>http://www.medindia.net/news/fetal-chromosome-abnormalities-can-be-identified-better-by-dna-test-better-than-standard-screens-132480-1.htmhttp://www.medindia.net/news/genetic-disorder-causing-strokes-and-vascular-inflammation-in-children-discovered-132165-1.htm
Gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes that begin early in Childhood have been discovered by researchers of National Institute of Health. The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel inflammation.
The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, ...]]>http://www.medindia.net/news/genetic-disorder-causing-strokes-and-vascular-inflammation-in-children-discovered-132165-1.htmhttp://www.medindia.net/news/drug-used-by-ubc-vch-scientists-to-repair-rare-birth-defect-129514-1.htm
A potential cure for a rare eye disease has been developed by University of British Columbia and Vancouver Coastal Health scientists. They have shown for the first time that a drug can repair a birth defect.
They formulated the drug Ataluren into eye drops, and found that it consistently restored normal vision in mice who had aniridia (ANN-uh-ridee-uh), a condition that severely limits the vision of about 5,000 people in North America. A small clinical trial with children and teens is expected to begin next year in Vancouver, the U....]]>http://www.medindia.net/news/drug-used-by-ubc-vch-scientists-to-repair-rare-birth-defect-129514-1.htmhttp://www.medindia.net/news/dark-matter-of-dna-reveals-cause-of-genetic-disorder-127735-1.htm
New technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA", was used by scientists for the first time. Pancreatic agenesis results in babies being born without a pancreas, leaving them with a lifetime of diabetes and problems digesting food. In a breakthrough for genetic research, teams led by the University of Exeter Medical School and Imperial College London found that the condition is most commonly caused by mutations ...]]>http://www.medindia.net/news/dark-matter-of-dna-reveals-cause-of-genetic-disorder-127735-1.htmhttp://www.medindia.net/news/male-birth-defect-linked-to-pesticide-exposure-127088-1.htm
Chemicals in commercial pesticides are associated with a common birth defect in male infants, reveals research.
The study, led by epidemiologists at the Stanford University School of Medicine, analyzed thousands of birth records and commercial pesticide application records for eight counties in California's heavily agricultural Central Valley.
They aimed to determine if kids were at higher risk of hypospadias if their moms had lived in close proximity to where pesticides were used while pregnant....]]>http://www.medindia.net/news/male-birth-defect-linked-to-pesticide-exposure-127088-1.htmhttp://www.medindia.net/news/woman-who-suffered-from-rare-genetic-disorder-passes-away-127054-1.htm
A 20-year old woman who suffered from a rare genetic disorder that prevented her from growing both physically and mentally beyond two years of age died last week. Brooke Greenberg from Baltimore suffered from an extremely rare genetic disorder, which the doctors finally called 'Syndrome X'. She looked and behaved like a two-year old with doctors unable to find the exact cause of her condition. The doctors revealed that she was the only person in the world who had the condition and were also not able to identify the exact cause of her death....]]>http://www.medindia.net/news/woman-who-suffered-from-rare-genetic-disorder-passes-away-127054-1.htmhttp://www.medindia.net/news/teen-boy-from-bihar-has-the-body-of-110-year-old-due-to-genetic-disorder-124195-1.htm
A 14-year old boy from Bihar is suffering from a rare genetic disorder that has left him with a body of a 110-year old man. The condition, known as Progeria, has been the focus of a few high profile films both in India and in the US with Hollywood actor Brad Pitt playing the lead character in the film 'The curious case of Benjamin Button' while Amitabh Bachchan won a number of awards for portraying Auro in the film 'Paa'. However unlike films, real life Progeria patients have a tougher life to ...]]>http://www.medindia.net/news/teen-boy-from-bihar-has-the-body-of-110-year-old-due-to-genetic-disorder-124195-1.htmhttp://www.medindia.net/news/brit-twins-affected-by-rare-genetic-disorder-123412-1.htm
Hannah and Katie Beck are the only twins in Britain who are suffering from a rare genetic disorder that affects just 800 people worldwide. The seven-year old twins suffer from a condition known as Alstrom syndrome, which is so rare that doctors failed to diagnose it until the sisters were four years old. The condition affects all organs of the body and one of the first symptoms being eye problems, which leads to early-onset blindness. The twins are also slowly losing their hearing and have to ...]]>http://www.medindia.net/news/brit-twins-affected-by-rare-genetic-disorder-123412-1.htmhttp://www.medindia.net/news/teen-has-rare-genetic-disorder-that-turns-muscles-and-tendons-into-bones-122786-1.htm
A 17-year old girl from West London in Britain is suffering from a rare genetic disorder that is turning her muscles and tendons into bones. Seanie Nammock was diagnosed with a condition known as fibrodysplasia ossificans progressiva (FOP) which affects just 45 people in Britain. Also known as Stone Man Syndrome, the condition causes the body tissue to become ossified, or rigid, when damaged. Injuries often cause joints to be frozen in place and any surgical attempt to remove the extra bone growth ...]]>http://www.medindia.net/news/teen-has-rare-genetic-disorder-that-turns-muscles-and-tendons-into-bones-122786-1.htmhttp://www.medindia.net/news/stem-cells-from-amniotic-fluid-may-be-used-to-treat-intestinal-disease-among-newborns-116350-1.htm
The results of a recent stem cell research indicate that stem cells from amniotic fluid could be used to treat a fatal intestinal disease, necrotising enterocolitis, among premature newborns.
Dr Paolo De Coppi, from University College London's Institute of Child Health, and team, conducted animal trials. Rats with the intestinal disease were injected with amniotic stem cells. A week later, it was found that rats injected with the stems cells showed increased survival rate with reduced inflammation of the intestine....]]>http://www.medindia.net/news/stem-cells-from-amniotic-fluid-may-be-used-to-treat-intestinal-disease-among-newborns-116350-1.htmhttp://www.medindia.net/news/chromosomal-microarray-versus-karyotyping-for-prenatal-diagnosis-113881-1.htm
Every expectant
parent hopes and prays for a healthy baby. Careful consideration is given
towards the well being of the baby by the mother-to-be for the entire duration
of 9 months. But there are times when you can't stop thinking about the
possible health problems of the baby especially in a high-risk pregnancy.
If you are worrying about this most of the time, you are not
alone. Fortunately, these days, there are numerous tests for pregnant
women which reassure them of the health of the baby throughout their pregnancy....]]>http://www.medindia.net/news/chromosomal-microarray-versus-karyotyping-for-prenatal-diagnosis-113881-1.htmhttp://www.medindia.net/news/study-dna-test-shows-how-our-ancestors-looked-like-112957-1.htm
A new study has found that a method of establishing hair and eye colour from modern forensic samples can also be used to identify details from ancient human remains.
The HIrisPlex DNA analysis system was able to reconstruct hair and eye colour from teeth up to 800 years old, including the Polish General Wladyslaw Sikorski (1881 to 1943) confirming his blue eyes and blond hair.
A team of researchers from Poland and the Netherlands, who recently developed the HIrisPlex system for forensic ...]]>http://www.medindia.net/news/study-dna-test-shows-how-our-ancestors-looked-like-112957-1.htmhttp://www.medindia.net/news/misdiagnosis-of-genetic-disorder-leads-to-unnecessary-removal-of-kidneys-112766-1.htm
New research suggests that thousands of individuals have had kidneys removed unnecessarily because doctors misdiagnosed their disease.
A new, international study published in iThe Lancet/i indicates that approximately one of every five individuals with kidney tumors common in patients with tuberous sclerosis complex (TSC), a genetic disorder, has had a kidney removed. Moreover, 40 percent had some kind of surgical procedure performed.
Proper diagnosis could have led to treatment that ...]]>http://www.medindia.net/news/misdiagnosis-of-genetic-disorder-leads-to-unnecessary-removal-of-kidneys-112766-1.htmhttp://www.medindia.net/news/likely-basis-of-birth-defect-causing-premature-skull-closure-in-infants-discovered-110195-1.htm
Two areas of the human genome linked with the most common form of non-syndromic craniosynostosis have been identified by a team of geneticists, pediatricians, surgeons and epidemiologists. Non-syndromic craniosynostosis is the premature closure of the bony plates of the skull.
"We have discovered two genetic factors that are strongly associated with the most common form of premature closure of the skull," said Simeon Boyadjiev, professor of pediatrics and genetics, principal investigator ...]]>http://www.medindia.net/news/likely-basis-of-birth-defect-causing-premature-skull-closure-in-infants-discovered-110195-1.htmhttp://www.medindia.net/news/genetic-disorder-in-children-linked-to-poor-adaptive-behavior-109654-1.htm
UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety is linked to poorer adaptive behaviors.
Self-care and communication skills are the poor adaptive behaviours that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.
The study findings suggest that ...]]>http://www.medindia.net/news/genetic-disorder-in-children-linked-to-poor-adaptive-behavior-109654-1.htmhttp://www.medindia.net/news/vascular-diseases-can-be-treated-by-reprogrammed-amniotic-fluid-cells-108886-1.htm
A way to utilize diagnostic prenatal amniocentesis cells has been discovered by a research team at Weill Cornell Medical College. The method involves reprogramming the cells into abundant and stable endothelial cells capable of regenerating damaged blood vessels and repairing injured organs.
Their study, published online today in Cell, paints a picture of a future therapy where amniotic fluid collected from thousands of amniocentesis procedures yearly, during mid-pregnancy to examine fetal chromosomes, ...]]>http://www.medindia.net/news/vascular-diseases-can-be-treated-by-reprogrammed-amniotic-fluid-cells-108886-1.htmhttp://www.medindia.net/news/rare-genetic-disorder-points-to-molecular-pathway-linked-to-schizophrenia-108293-1.htm
Scientists studying a rare genetic disorder have discovered a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of iThe Journal of Neuroscience/i. Results of this new research could lead to new treatment options for people with schizophrenia - a devastating disease that affects approximately 1 percent of the world's population.
Schizophrenia is characterized by a multitude of symptoms, including hallucinations, social withdrawal, and ...]]>http://www.medindia.net/news/rare-genetic-disorder-points-to-molecular-pathway-linked-to-schizophrenia-108293-1.htmhttp://www.medindia.net/news/exposure-to-common-herbicide-raises-birth-defect-risk-107789-1.htm
Exposure to common herbicide, which is used in United States, increases the the risk of congenital abnormality of the nasal cavity known as choanal atresia.
The study by Dr. Philip Lupo, assistant professor of pediatrics - hematology/oncology at BCM and Texas Children's Cancer Center, is scheduled for publication in The iJournal of Pediatrics/i.
Choanal atresia is a disorder where the back of the nasal passage is blocked by tissue formed during fetal development. It is a rare condition ...]]>http://www.medindia.net/news/exposure-to-common-herbicide-raises-birth-defect-risk-107789-1.htmhttp://www.medindia.net/news/genetic-disorder-is-passed-on-to-five-children-by-the-sperm-donor-107518-1.htm
After a screening test failed to catch that a Danish sperm donor had the disease,he has potentially passed a severe genetic disorder to five children.
The donor transmitted the tumor-producing nerve disorder Neurofibromatosis type I, sometimes known as Von Recklinghausen's disease, to five babies he fathered, said the Copenhagen clinic where he gave sperm, Nordisk Cryobank.
"In the case of these five, we know that the disorder came from the donor," even though the disorder is not always ...]]>http://www.medindia.net/news/genetic-disorder-is-passed-on-to-five-children-by-the-sperm-donor-107518-1.htmhttp://www.medindia.net/news/rare-genetic-disorder-can-be-studied-in-new-mouse-model-107491-1.htm
Researchers can utilize new mouse models to study a rare genetic disorder known as SECISBP2 syndrome which can lead to abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics, a new study presented at the American Thyroid Association annual meet in Quebec City, Canada reveals.
"SECISBP2 syndrome has confounded the scientific community. New approaches to study the biological underpinnings of SECISBP2 syndrome are thus critical to truly make progress ...]]>http://www.medindia.net/news/rare-genetic-disorder-can-be-studied-in-new-mouse-model-107491-1.htmhttp://www.medindia.net/news/new-mouse-model-may-provide-insights-into-severe-genetic-disorder-in-children-107308-1.htm
New mouse models can help researchers study MCT8 deficiency - an inherited genetic disorder in children, says study. "MCT8 deficiency is a serious diagnosis.
Children born with this inherited disorder experience profound psycho-motor delays and are often completely incapacitated," said Douglas Forrest, PhD, of the National Institute of Diabetes and Digestive and Kidney Diseases, and Program Co-Chair of the ATA Annual Meeting. "New ways to study this disorder are greatly needed."
MCT8 ...]]>http://www.medindia.net/news/new-mouse-model-may-provide-insights-into-severe-genetic-disorder-in-children-107308-1.htmhttp://www.medindia.net/news/new-dna-test-can-predict-mens-chances-of-going-bald-104143-1.htm
Men can find out their chances of losing their hair by spending just 195 pounds. A DNA test, costing 195 pounds, will determine whether a gene is present that causes follicles to stop growing, the Daily Express reported.
Similar to a paternity test, a swab is taken of the inside cheek. It is then analysed in the US and the results are returned in 10 days.
Men testing positive have a 70 per cent chance of losing around 60 per cent of their hair by the age of 40.
A negative result, ...]]>http://www.medindia.net/news/new-dna-test-can-predict-mens-chances-of-going-bald-104143-1.htmhttp://www.medindia.net/news/stem-cells-in-amniotic-fluid-can-be-used-for-therapies-103680-1.htm
Stem cells found in amniotic fluid can be transformed into a more versatile state similar to embryonic stem cells, according to a study published today in the journal iMolecular Therapy/i. Scientists from Imperial College London and the UCL Institute of Child Health succeeded in reprogramming amniotic fluid cells without having to introduce extra genes. The findings raise the possibility that stem cells derived from donated amniotic fluid could be stored in banks and used for therapies and in ...]]>http://www.medindia.net/news/stem-cells-in-amniotic-fluid-can-be-used-for-therapies-103680-1.htmhttp://www.medindia.net/news/scientists-identify-mutation-behind-rare-genetic-disorder-101454-1.htm
The genetic cause of a birth defect known as Hamamy syndrome has been identified by scientists.
The discovery made by scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, gives new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility.
Hamamy syndrome is a rare genetic disorder, which is marked by abnormal facial features (Annex A) and defects in the heart, bone, blood and reproductive cells....]]>http://www.medindia.net/news/scientists-identify-mutation-behind-rare-genetic-disorder-101454-1.htmhttp://www.medindia.net/news/rare-genetic-disorder-that-turns-organs-into-crystals-100036-1.htm
A distressed couple in Leeds has revealed that both of their children are suffering from a rare genetic disorder that slowly turns their organs into crystals. Jessica Kemp revealed that her daughters, Emily, 3, and Poppy-Mae, 2, have been diagnosed with cystinosis, a rare genetic disorder that affects just one in 3.5 million. Cystinosis is an incurable condition with just 2,000 patients in the world and as it is a genetic disease, there is a one in four chance that Ms Kemp's children may suffer from the disease....]]>http://www.medindia.net/news/rare-genetic-disorder-that-turns-organs-into-crystals-100036-1.htmhttp://www.medindia.net/news/genetic-cause-of-spinal-birth-defect-bypassed-by-fasudil-98573-1.htm
Spinal muscular atrophy (SMA) is a disease caused by an inheritable defect in the gene SMN1 that is incurable and progressive. Depending on the severity of the mutation it can result in the loss of spinal cord motor neurons, muscle wasting (atrophy) and even death of an affected child. A new study published in Biomed Central's open access journal IBMC Medicine/I shows that Fasudil, a ROCK inhibitor, can improve both the size of muscle fibers and their connection to motor neurons. Fasudil also ...]]>http://www.medindia.net/news/genetic-cause-of-spinal-birth-defect-bypassed-by-fasudil-98573-1.htmhttp://www.medindia.net/news/cause-of-birth-defect-tracked-97566-1.htm
The source of a genetic disorder that causes life-threatening birth defects has been identified by researchers.
Babies born with the disorder, known as Loeys-Dietz syndrome or Marfan syndrome type II, have cleft palates and other facial characteristics similar to babies born with other diseases - but also happen to suffer potentially fatal heart defects, making it critical for them to receive an accurate diagnosis right away.
Researchers from USC found an abnormally high amount of a ...]]>http://www.medindia.net/news/cause-of-birth-defect-tracked-97566-1.htmhttp://www.medindia.net/news/organ-injuring-in-inflammatory-genetic-disorder-arrested-by-rheumatoid-arthritis-drug-97424-1.htm
Kineret (anakinra), an approved medication to treat rheumatoid arthritis, successfully bars progression of organ damage in people with neonatal-onset multisystem inflammatory disease (NOMID), reveals a new study.
This rare and debilitating genetic disorder causes persistent inflammation and ongoing tissue damage.
NOMID affects numerous organs and body systems, including the skin, joints, eyes, and central nervous system. The first sign of the disease is often a rash that develops within the first weeks of life....]]>http://www.medindia.net/news/organ-injuring-in-inflammatory-genetic-disorder-arrested-by-rheumatoid-arthritis-drug-97424-1.htmhttp://www.medindia.net/news/traces-to-common-birth-defect-in-gene-expression-data-noticed-by-massgeneral-jackson-researchers-97237-1.htm
The 27 new candidate genes for congenital diaphragmatic hernia (CDH), a usual and often deadly birth defect were revealed by researchers at MassGeneral Hospital for Children (MGHfC), The Jackson Laboratory and other institutes.
Their sophisticated data-filtering strategy, which uses gene expression during normal development as a starting point, offers a new, efficient and potentially game-changing approach to gene discovery.
Babies born with CDH-representing one in every 3,000 live births-have ...]]>http://www.medindia.net/news/traces-to-common-birth-defect-in-gene-expression-data-noticed-by-massgeneral-jackson-researchers-97237-1.htmhttp://www.medindia.net/news/Infant-Survival-Enhanced-Via-In-utero-Procedure-for-Birth-Defect-of-the-Diaphragm-94972-1.htm
The journal iUltrasound in Obstetrics (and) Gynaecology /i publishes that the survival rate in severe cases of congenital diaphragmatic hernia (CDH) is improved by foetal tracheal occlusion (FETO).
CDH is a birth defect where there exists a severe malformation (hole) of the diaphragm and is a major cause of death in infants due to pulmonary hypoplasia, an incomplete development of the lungs.
Researchers led by Rodrigo Ruano, MD, PhD, of the Faculdade de Medicina da Universidade de Sao Paulo, ...]]>http://www.medindia.net/news/Infant-Survival-Enhanced-Via-In-utero-Procedure-for-Birth-Defect-of-the-Diaphragm-94972-1.htmhttp://www.medindia.net/news/Report-Finds-1-in-50-Babies-Has-Birth-Defect-and-Highlights-Worrying-Gaps-in-Regional-Monitoring-94857-1.htm
The latest annual report by the British Isles Network of Congenital Anomaly Registers (BINOCAR) has said that more than one baby in every 50 is born with a birth defect. This number is significantly more common than previously reported estimates of around one in 80.
The study* - led by researchers at Queen Mary, University of London and commissioned by the Healthcare Quality Improvement Partnership (HQIP) - is the most up-to-date and comprehensive of its kind, bringing together existing data in England and Wales from 2005 to 2009....]]>http://www.medindia.net/news/Report-Finds-1-in-50-Babies-Has-Birth-Defect-and-Highlights-Worrying-Gaps-in-Regional-Monitoring-94857-1.htmhttp://www.medindia.net/news/Fetal-Development-Monitor-Could-Be-Based-on-Genetic-Analysis-of-Amniotic-Fluid-88849-1.htm
Researchers have demonstrated the feasibility of focused fetal gene expression analysis of target genes found in amniotic fluid using Standardized NanoArray PCR (SNAP) technology. This analysis could be used to monitor fetal development, enabling clinicians to determine very early in pregnancy whether fetal organ systems are developing normally. The study appears today in the September issue of The IJournal of Molecular Diagnostics/I.
Using a previously developed SNAP gene panel as proof ...]]>http://www.medindia.net/news/Fetal-Development-Monitor-Could-Be-Based-on-Genetic-Analysis-of-Amniotic-Fluid-88849-1.htmhttp://www.medindia.net/news/New-DNA-Test-Links-Low-Income-to-Shorter-Life-88370-1.htm
Scientists have developed a new test of aging process based on DNA evidence. They have said it could provide faster feedback on public health measures.
Glasgow Centre for Population Health work has confirmed the link between social factors and the rate at which people age.
The scientists measured the length of telomeres, the tails on the ends of chromosomes, in sample groups in the Glasgow area.
The Telomeres tend to become shorter over a person's lifetime, indicating the speed of the ageing process....]]>http://www.medindia.net/news/New-DNA-Test-Links-Low-Income-to-Shorter-Life-88370-1.htmhttp://www.medindia.net/news/Birth-Defect-Risk-High-For-Surviving-Baby-When-Twin-Dies-Early-In-Womb-87407-1.htm
The risk of birth defects increases for the surviving baby when its twin dies early in the mother's womb, Associate Professor Michael Davies of the University of Adelaide has said. He is the co-director of the Research Centre for the Early Origins of Health and Disease at the university.The "vanishing twin" phenomenon could perhaps be linked to a nearly two-fold increased risk of congenital malformation in the surviving baby, and a threefold increase in multiple birth defects. The phenomenon occurs ...]]>http://www.medindia.net/news/Birth-Defect-Risk-High-For-Surviving-Baby-When-Twin-Dies-Early-In-Womb-87407-1.htmhttp://www.medindia.net/news/Parkinsons-Disease-Research-Advances-From-Rare-Genetic-Disorder-87018-1.htm
Massachusetts General Hospital investigators appear to have found the mechanism behind a previously reported link between the rare genetic condition Gaucher disease and the common neurodegenerative disorder Parkinson's disease. In a report to appear in the July 8 issue oIf Cell/I and receiving early online release, they describe how disruption of the molecular pathway that causes Gaucher disease leads to the toxic neuronal deposits of the protein alpha-synuclein ( (and) #945;-syn) found in Parkinson's and related disorders....]]>http://www.medindia.net/news/Parkinsons-Disease-Research-Advances-From-Rare-Genetic-Disorder-87018-1.htmhttp://www.medindia.net/news/Progress-Made-on-DNA-Test-to-Detect-Early-Bowel-Cancer-81879-1.htm
A new discovery means that a DNA test to detect the early signs of bowel cancer could be one step closer.
Tests on two distinct genes were highly accurate in distinguishing between tumours and benign polyps - growths in the bowel that can become cancerous.
While not all polyps in the bowel become cancerous it is thought almost all bowel cancers develop from polyps.
The Cambridge study analysed 261 samples from patients with benign polyps or bowel cancer.
In particular it looked at ...]]>http://www.medindia.net/news/Progress-Made-on-DNA-Test-to-Detect-Early-Bowel-Cancer-81879-1.htmhttp://www.medindia.net/news/Birth-Defect-in-Spine-Best-Repaired-by-Surgery-in-the-Womb-80672-1.htm
Results of an eight-year US trial released Wednesday suggest surgery to repair a birth defect known as spina bifida is best done in the womb rather than after the baby is born.
The method was so successful in boosting babies' health and mobility that the trial was halted early, said the findings published in the New England Journal of Medicine.
Spina bifida is a disorder of the central nervous system that occurs when the spinal cord is partially exposed, protruding on the baby's back.
Children ...]]>http://www.medindia.net/news/Birth-Defect-in-Spine-Best-Repaired-by-Surgery-in-the-Womb-80672-1.htmhttp://www.medindia.net/news/Model-To-Predict-Likelihood-of-Drug-Birth-Defect-In-Pregnancy-79099-1.htm
Researchers have created a preclinical model for predicting a drug's tendency to cause fetal malformations during pregnancy based on characterizing the genes that it targets.
The Children's Hospital Boston Informatics Program (CHIP) used bioinformatics and public databases to profile 619 drugs already assigned to a pregnancy risk class, and whose target genes or proteins are known.
The researchers found that drugs targeting a large proportion of genes associated with fetal development tended to be in the higher risk classes....]]>http://www.medindia.net/news/Model-To-Predict-Likelihood-of-Drug-Birth-Defect-In-Pregnancy-79099-1.htmhttp://www.medindia.net/news/Research-Supports-Newborn-Screening-and-Early-Treatment-for-Rare-Genetic-Disorder-77528-1.htm
In a study that supports the need for newborn screening and early treatment for a rare genetic disorder, researchers at Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed) and Iowa State University found enzyme replacement therapy beginning at birth eliminated almost all of the symptoms associated with mucopolysaccharidosis type I, or MPS I, in animal models.
The study, which was published today in the journal, IScience Translational Medicine,/I is the first ...]]>http://www.medindia.net/news/Research-Supports-Newborn-Screening-and-Early-Treatment-for-Rare-Genetic-Disorder-77528-1.htmhttp://www.medindia.net/news/Boffins-Identify-Gene-Linked-to-Common-Birth-Defect-Hypospadias-in-Male-Genitalia-77451-1.htm
A research team has discovered a new gene associated with Hypospadias, the congenital malformation of the male genitalia.
The study, conducted by King's College London, in collaboration with Radboud University Nijmegen Medical Centre in The Netherlands, shows for the first time that a gene inherited from the mother is likely to be important in development of the condition.
Hypospadias is a common congenital condition, which affects around 1 in 375 boys. In these infants the urethral opening ...]]>http://www.medindia.net/news/Boffins-Identify-Gene-Linked-to-Common-Birth-Defect-Hypospadias-in-Male-Genitalia-77451-1.htm